Variant report

Variant	rs553431360
Chromosome Location	chr7:26437959-26437960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:26437596-26438809	K562	blood:	n/a	n/a
2	MYC	chr7:26437596-26439124	NB4	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
3	GATA2	chr7:26437331-26439435	SH-SY5Y	brain:	n/a	chr7:26437759-26437767
4	MAX	chr7:26437489-26438108	H1-hESC	embryonic stem cell:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
5	POLR2A	chr7:26437812-26438221	GM12892	blood:	n/a	n/a
6	CTCF	chr7:26437900-26438050	GM12873	blood:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
7	MAX	chr7:26437585-26439122	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
8	CTCF	chr7:26437788-26438212	K562	blood:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
9	POLR2A	chr7:26437691-26438690	HEK293	kidney:	n/a	n/a
10	CTCF	chr7:26437940-26438090	HRPEpiC	eye:	n/a	n/a
11	POLR2A	chr7:26437683-26438786	A549	lung:	n/a	n/a
12	MAX	chr7:26437959-26439171	ECC-1	luminal epithelium:	n/a	chr7:26437959-26437969
13	POLR2A	chr7:26437786-26439075	K562	blood:	n/a	n/a
14	ZEB1	chr7:26437782-26439122	GM12878	blood:	n/a	n/a
15	GTF2F1	chr7:26437792-26438219	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr7:26437493-26439166	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
17	HDAC2	chr7:26437668-26438113	K562	blood:	n/a	n/a
18	ELF1	chr7:26437502-26439142	GM12878	blood:	n/a	chr7:26437841-26437853
19	POLR2A	chr7:26437950-26438706	K562	blood:	n/a	n/a
20	MAX	chr7:26437509-26438036	H1-hESC	embryonic stem cell:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
21	POLR2A	chr7:26437709-26438758	K562	blood:	n/a	n/a
22	CTCF	chr7:26437920-26438070	HBMEC	blood vessel:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
23	ELF1	chr7:26437917-26438312	K562	blood:	n/a	n/a
24	MYC	chr7:26437454-26439222	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
25	YY1	chr7:26437634-26439040	GM12878	blood:	n/a	chr7:26438684-26438693 chr7:26437841-26437855
26	CTCF	chr7:26437860-26438010	GM12864	blood:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
27	CTCF	chr7:26437740-26438030	HRE	kidney:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
28	POLR2A	chr7:26437895-26438382	GM12891	blood:	n/a	n/a
29	JUND	chr7:26437865-26439107	K562	blood:	n/a	n/a
30	E2F6	chr7:26437470-26439230	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr7:26437866-26439292	GM12878	blood:	n/a	n/a
32	ELF1	chr7:26437708-26438029	K562	blood:	n/a	chr7:26437841-26437853
33	POLR2A	chr7:26437709-26439218	HL-60	blood:	n/a	n/a
34	POLR2A	chr7:26437571-26439406	HUVEC	blood vessel:	n/a	n/a
35	NRF1	chr7:26437955-26438691	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:26437618-26439118	GM19099	blood:	n/a	n/a
37	RCOR1	chr7:26437517-26439173	K562	blood:	n/a	n/a
38	CTCF	chr7:26437840-26437990	GM06990	blood:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
39	PML	chr7:26437402-26439224	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:26437571-26438893	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:26437588-26438986	GM12878	blood:	n/a	n/a
42	CCNT2	chr7:26437746-26439019	K562	blood:	n/a	n/a
43	NFIC	chr7:26437682-26439134	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:26437495-26439143	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:26437499-26438974	Raji	blood:	n/a	n/a
46	POLR2A	chr7:26437959-26438560	HUVEC	blood vessel:	n/a	n/a
47	RUNX3	chr7:26437541-26439267	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:26437811-26438932	K562	blood:	n/a	n/a
49	POLR2A	chr7:26437438-26439240	H1-neurons	neurons:	n/a	n/a
50	ZNF143	chr7:26437946-26438228	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000214870	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3374116	chr7:26436952-26439800	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26436000-26438600	Enhancers	Fetal Brain Male	brain
2	chr7:26437000-26438000	Enhancers	Fetal Heart	heart
3	chr7:26437200-26439400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:26437400-26438000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26437400-26438000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:26437400-26438000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:26437400-26438000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:26437400-26438000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:26437400-26438000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
10	chr7:26437400-26438000	Flanking Active TSS	Colonic Mucosa	Colon
11	chr7:26437400-26438000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr7:26437400-26438000	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr7:26437400-26438000	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr7:26437400-26438000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:26437400-26438000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:26437400-26438000	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:26437400-26438000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:26437400-26438200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr7:26437400-26438200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:26437400-26438200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:26437400-26438400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr7:26437400-26438600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:26437400-26438600	Active TSS	Osteobl	bone
24	chr7:26437400-26438800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:26437400-26439000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr7:26437400-26439000	Active TSS	Psoas Muscle	Psoas
27	chr7:26437400-26439400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:26437400-26439600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:26437600-26438000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:26437600-26438000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
32	chr7:26437600-26438000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
34	chr7:26437600-26438000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:26437600-26438000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:26437600-26438000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:26437600-26438000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:26437600-26438000	Flanking Active TSS	Esophagus	oesophagus
41	chr7:26437600-26438000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:26437600-26438000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr7:26437600-26438000	Flanking Active TSS	Placenta	Placenta
44	chr7:26437600-26438000	Flanking Active TSS	Lung	lung
45	chr7:26437600-26438000	Flanking Active TSS	Pancreas	Pancrea
46	chr7:26437600-26438000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr7:26437600-26438000	Flanking Active TSS	Right Ventricle	heart
48	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr7:26437600-26438000	Flanking Active TSS	HUVEC	blood vessel
50	chr7:26437600-26438000	Flanking Bivalent TSS/Enh	NHEK	skin

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